Table 2.
Clinical manifestation of spinocerebellar ataxia in Japan*
| Types of SCA (n = 6,156) | ||||||
|---|---|---|---|---|---|---|
|
| ||||||
| Number of cases | Sporadic | Autosomal dominant | Autosomal recessive | Other genetic types | Spastic palsy | Unknown |
| 3,410 | 1,914 | 81 | 70 | 484 | 197 | |
| Neurological presentation | ||||||
| Dementia | 9.2% | 11.8% | 22.2% | 18.6% | 11.2% | 8.1% |
| Cerebellar dysarthria | 86.3% | 86.5% | 84.0% | 81.4% | 12.8% | 77.2% |
| Gait ataxia | 94.5% | 93.8% | 84.0% | 94.3% | 21.5% | 82.7% |
| Limb ataxia | 92.5% | 92.5% | 91.4% | 92.9% | 18.8% | 80.2% |
| Romberg sign | 23.3% | 19.5% | 19.8% | 22.9% | 9.5% | 21.3% |
| Babinski sign | 7.6% | 12.9% | 27.2% | 15.7% | 77.1% | 10.2% |
| Vertical supra-nuclear gaze palsy | 2.0% | 3.6% | 2.5% | 4.3% | 2.7% | 1.5% |
| Gaze-evoked nystagmus | 19.1% | 36.7% | 30.9% | 22.9% | 2.9% | 20.8% |
| Disturbance of slow | 24.5% | 29.3% | 24.7% | 30.0% | 5.2% | 21.3% |
| Eye movement | ||||||
| Parkinsonism | 5.7% | 3.7% | 1.2% | 10.0% | 2.3% | 3.0% |
| Limb reflex | ||||||
| Hyperactive | 22.1% | 34.3% | 30.9% | 20.0% | 92.1% | 23.9% |
| Sluggish | 16.9% | 15.5% | 42.0% | 17.1% | 0.6% | 16.8% |
| Normal | 59.5% | 48.6% | 25.9% | 62.9% | 7.2% | 46.2% |
*
From FY2004 to FY2008, 6,156 cases were registered in the national database for designated intractable diseases. We analyzed the clinical manifestation of SCA types by using the latest criteria: sporadic autosomal dominant, autosomal recessive, other genetic types, spastic palsy, and unknown.